Paternal GNAS Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

CONTEXT: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggested that mutations on the paternal, but no...

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Detalhes bibliográficos
Main Authors: Richard, Nicolas, Molin, Arnaud, Coudray, Nadia, Rault-Guillaume, Pauline, Jüppner, Harald, Kottler, Marie-Laure
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2013
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3763972/
https://ncbi.nlm.nih.gov/pubmed/23884777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-1667
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